DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients()

We analyzed the DJ1 gene in a large consecutive series (N = 163) of Italian unrelated Early Onset Parkinson Disease (EOPD: onset ≤40 years of age) patients and 100 healthy controls (mean age 64 ± 7 years). No homozygous or compound heterozygous mutations with an obvious pathogenic effect were found....

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Autores principales: Sironi, Francesca, Primignani, Paola, Ricca, Sara, Tunesi, Sara, Zini, Michela, Tesei, Silvana, Cilia, Roberto, Pezzoli, Gianni, Seia, Manuela, Goldwurm, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Scientific Publishers Ireland 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3878804/
https://www.ncbi.nlm.nih.gov/pubmed/24176883
http://dx.doi.org/10.1016/j.neulet.2013.10.048
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author Sironi, Francesca
Primignani, Paola
Ricca, Sara
Tunesi, Sara
Zini, Michela
Tesei, Silvana
Cilia, Roberto
Pezzoli, Gianni
Seia, Manuela
Goldwurm, Stefano
author_facet Sironi, Francesca
Primignani, Paola
Ricca, Sara
Tunesi, Sara
Zini, Michela
Tesei, Silvana
Cilia, Roberto
Pezzoli, Gianni
Seia, Manuela
Goldwurm, Stefano
author_sort Sironi, Francesca
collection PubMed
description We analyzed the DJ1 gene in a large consecutive series (N = 163) of Italian unrelated Early Onset Parkinson Disease (EOPD: onset ≤40 years of age) patients and 100 healthy controls (mean age 64 ± 7 years). No homozygous or compound heterozygous mutations with an obvious pathogenic effect were found. Several variants were identified, some of which were novels. All variants had similar frequency in patients and in controls. Our data suggest that DJ1 mutations are very rare in Italian EOPD. Other genes and risk factors for PD are still to be identified.
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spelling pubmed-38788042014-01-03 DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients() Sironi, Francesca Primignani, Paola Ricca, Sara Tunesi, Sara Zini, Michela Tesei, Silvana Cilia, Roberto Pezzoli, Gianni Seia, Manuela Goldwurm, Stefano Neurosci Lett Article We analyzed the DJ1 gene in a large consecutive series (N = 163) of Italian unrelated Early Onset Parkinson Disease (EOPD: onset ≤40 years of age) patients and 100 healthy controls (mean age 64 ± 7 years). No homozygous or compound heterozygous mutations with an obvious pathogenic effect were found. Several variants were identified, some of which were novels. All variants had similar frequency in patients and in controls. Our data suggest that DJ1 mutations are very rare in Italian EOPD. Other genes and risk factors for PD are still to be identified. Elsevier Scientific Publishers Ireland 2013-12-17 /pmc/articles/PMC3878804/ /pubmed/24176883 http://dx.doi.org/10.1016/j.neulet.2013.10.048 Text en © 2013 The Authors https://creativecommons.org/licenses/by-nc-sa/3.0/ Open Access under CC BY-NC-SA 3.0 (https://creativecommons.org/licenses/by-nc-sa/3.0/) license
spellingShingle Article
Sironi, Francesca
Primignani, Paola
Ricca, Sara
Tunesi, Sara
Zini, Michela
Tesei, Silvana
Cilia, Roberto
Pezzoli, Gianni
Seia, Manuela
Goldwurm, Stefano
DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients()
title DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients()
title_full DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients()
title_fullStr DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients()
title_full_unstemmed DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients()
title_short DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients()
title_sort dj1 analysis in a large cohort of italian early onset parkinson disease patients()
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3878804/
https://www.ncbi.nlm.nih.gov/pubmed/24176883
http://dx.doi.org/10.1016/j.neulet.2013.10.048
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